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Titolo:
Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type
Autore:
Kantaputra, PN; Gorlin, RJ; Ukarapol, N; Unachak, K; Sudasna, J;
Indirizzi:
Chiang Mai Univ, Fac Med, Dept Pediat, Chiang Mai, Thailand Chiang Mai Univ Chiang Mai Thailand , Dept Pediat, Chiang Mai, Thailand Chiang Mai Univ, Fac Dent, Dept Pediat Dent, Chiang Mai, Thailand Chiang Mai Univ Chiang Mai Thailand t Pediat Dent, Chiang Mai, Thailand Univ Minnesota, Sch Dent, Dept Oral Sci, Minneapolis, MN 55455 USA Univ Minnesota Minneapolis MN USA 55455 al Sci, Minneapolis, MN 55455 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 84, anno: 1999,
pagine: 1 - 7
SICI:
0148-7299(19990507)84:1<1:R(FSRO>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Keywords:
Robinow syndrome; fetal face syndrome; mesomelic dysplasia; ambiguous genitalia; shawl scrotum; mesomelic brachymelia; vertebral anomalies; bifid distal phalanges; cone-shaped epiphysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Kantaputra, PN Chiang Mai Univ, Fac Dent, Dept Pediat, Chiang Mai 50200, Thailand Chiang Mai Univ Chiang Mai Thailand 50200 50200, Thailand
Citazione:
P.N. Kantaputra et al., "Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type", AM J MED G, 84(1), 1999, pp. 1-7

Abstract

The cases of two patients with Robinow fetal face syndrome, an Ii-year-oldThai boy and a newborn Caucasian girl, are described. The Thai boy had thecharacteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdevelopedsinuses, short roots of the teeth, narrow and thick-floored pulp chambers,hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typicalof the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type, Infrequently reported clinical manifestations of the syndrome are discussed. (C) Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 03:39:05